Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.A86V
Back to variants list

TPM1

NM_001018005.2:p.A86V

Associated Papers

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Case report: cosegregation of a TPM1 in-frame deletion (p.Lys7del) with familial non-compaction cardiomyopathy (NCCM).

Hanel Y et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2024

Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.

Schultze-Berndt A et al.

Frontiers in Pediatrics, 2021

34540771 (PubMed )
Supplement: Data_Sheet_1.PDF
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."